GfH 2022

Rami Abou Jamra

Sortierung nach Typ Sortierung nach Zeit

Referate

	Zeit	ID	Programmpunkt
	17.03.2022 10:00–10:15		tba Redezeit: 15 min in Session: EDU 2 Mutations we almost missed
	17.03.2022 10:45–11:00	W1-004	AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders Redezeit: 15 min in Session: Workshop 1 Technology and Bioinformatics

Moderation

	Zeit		Titel der Session
	17.03.2022 16:00 – 17:30		Workshop 6 Neurogenetics

Abstracts (Beteiligung als Autor)

	Zeit	ID	Programmpunkt
	17.03.2022 10:00–10:15	W2-001	De novo variants in the PABP-domain of PABPC1 lead to developmental delay
	17.03.2022 10:45–11:00	W1-004	AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders
	17.03.2022 15:14–15:16	P-ClinG-087	Prenatal phenotype of PNKP-related primary microcephaly and unexpected complex variant mechanisms in RNA-analysis
	17.03.2022 15:22–15:24	P-ClinG-067	Supplementing evidence for novel disorders through routine diagnostics
	18.03.2022 11:42–11:44	P-ClinG-038	Why we should re-analyse – Insights from 152 cases with developmental disorders
	18.03.2022 11:44–11:46	P-MonoG-144	WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly
	18.03.2022 11:50–11:52	P-MonoG-154	A new variant in ACTN2 in a patient with slowly progressive proximal myopathy
	18.03.2022 12:04–12:06	P-Techno-196	PTEE resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies
	18.03.2022 12:08–12:10	P-MonoG-176	Posterior lissencephaly caused by domain specific missense-variants in CEP85L
	18.03.2022 12:08–12:10	P-Techno-200	A new tool in the box: Long-read sequencing in routine diagnostics
	18.03.2022 12:08–12:10	P-ClinG-068	PHIP-associated Chung-Jansen syndrome: report of 14 new individuals